Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort-Reference-Cited by-同舟云学术

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort

Published:2017-11-25 Issue:1 Volume:33 Page:261-269
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Falsaperla Raffaele, ,Vari Maria Stella,Toldo Irene,Murgia Alessandra,Sartori Stefano,Vecchi Marilena,Suppiej Agnese,Burlina Alberto,Mastrangelo Mario,Leuzzi Vincenzo,Marchiani Valentina,De Liso Paola,Capovilla Giuseppe,Striano Pasquale,Vitaliti Giovanna^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-017-0150-x/fulltext.html

Reference22 articles.

1. Baxter P (1999) Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 81(5):431–433. https://doi.org/10.1136/adc.81.5.431

2. Baxter P (2001) Pyridoxine-dependent and Pyridoxine-responsive seizures. Dev Med Child Neurol 43(06):416–420. https://doi.org/10.1017/S0012162201000779

3. Baxter P, Griffiths P, Kelly T, Gardner-Medwin D (1996) Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 38(11):998–1006

4. Been JV, Bok LA, Andriessen P, Renier WO (2005) Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch Dis Child 90(12):1293–1296. https://doi.org/10.1136/adc.2005.075069

5. Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM (2009) Prevalence of ALDH7A1 mutations in 18 north American pyridoxine-dependent seizure (PDS) patients. Epilepsia 50(5):1167–1175. https://doi.org/10.1111/j.1528-1167.2008.01816.x

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns;Frontiers in Genetics;2024-09-12

2. PYRIDOXINE-dependent epilepsy (PDE): An observational study of neonatal cases on the role of pyridoxine in patients treated with standard anti-seizure medications;Seizure: European Journal of Epilepsy;2024-05

3. Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review;Epilepsy Research;2024-05

4. Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines;JIMD Reports;2024-04-03

5. Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study;Frontiers in Neurology;2024-02-14